[EULAR HL 2023] Rare and autoinflammatory diseases

M. Lanzillotta et al. (OP0251) characterized the epidemiology, clinical manifestations, and response to treatment of IgG4-RD patients in Europe. 1079 individuals with were screened but only 735 were diagnosed with IgG4-RD. 45% had multiorgan involvement. Pancreas, salivary glands, and biliary tree were the most frequently involved organs. Steroid-treatment was started in 634 patients; This study indicates that patients with elevated IgG4 level may need closer monitoring during remission induction and that 0.4mg/kg/day of prednisone equivalent for at least 2 weeks represents the most effective strategy to induce IgG4-RD remission.

 J. B. Kuemmerle-Deschner et al. (OP0252) explored the long-term safety and effectiveness of canakinumab under routine clinical practice conditions in paediatric and adult patients with CAPS, including Muckle-Wells syndrome, familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome. 75% of the patients were in disease remission at month 48 by physician assessment. The 48-month analysis of the RELIANCE registry demonstrates that long-term canakinumab treatment is safe and effective independent of subtype severity. 

C. David-Gabarre et al. (OP0254) gathered a the first European cohort of COPA patients (disease due to heterozygous mutations in COPA), to better delineate the clinical phenotype of this rare monogenic disorder. The core organ features are (lung, joint and kidney), this data expand the phenotype to include cardiac, skin and digestive features, further demonstrating the clinical overlap with other type I interferonopathies. A high level of clinical non-penetrance, was confirmed. This study suggests a requirement to assess IFN pathway status and/or perform sequencing in the case of suggestive features, even without a familial history. 

A. Mekinian et al. (AB1456) described the clinical and laboratory characteristics and outcomes of VEXAS syndrome. This is the largest multicenter cohort of VEXAS syndrome (256 patients) and which allow to compare the efficacy and tolerance of various biologics and JAK inhibitors and seem confirm the benefit of JAKi and also of tocilizumab. 

Y. Sakai et al. (POS0962) aimed to clarify the clinical manifestations of patients with elderly onset Adult-Onset Still’s Disease (AOSD). 103 patients were included, 19% were categorized as elderly-onset. The median age of the elderly-onset and young-onset patients was 78 and 47 years, mostly female. In the elderly-onset group, frequency of serositis, interstitial lung disease, and median Pouchot Score were significantly higher than the young–onset group. Typical rash, sore throat, and splenomegaly were less frequent. Hospitalization for AOSD flare was comparable between groups while hospitalization due to infectious was more frequently observed in the elderly-onset group.

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